2022
Polygenic risk modeling for prediction of epithelial ovarian cancer risk
Dareng EO, Tyrer JP, Barnes DR, Jones MR, Yang X, Aben KKH, Adank MA, Agata S, Andrulis IL, Anton-Culver H, Antonenkova NN, Aravantinos G, Arun BK, Augustinsson A, Balmaña J, Bandera EV, Barkardottir RB, Barrowdale D, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Bjorge L, Black A, Bogdanova NV, Bonanni B, Borg A, Brenton JD, Budzilowska A, Butzow R, Buys SS, Cai H, Caligo MA, Campbell I, Cannioto R, Cassingham H, Chang-Claude J, Chanock SJ, Chen K, Chiew YE, Chung WK, Claes KBM, Colonna S, Cook L, Couch F, Daly M, Dao F, Davies E, de la Hoya M, de Putter R, Dennis J, DePersia A, Devilee P, Diez O, Ding Y, Doherty J, Domchek S, Dörk T, du Bois A, Dürst M, Eccles D, Eliassen H, Engel C, Evans G, Fasching P, Flanagan J, Fortner R, Machackova E, Friedman E, Ganz P, Garber J, Gensini F, Giles G, Glendon G, Godwin A, Goodman M, Greene M, Gronwald J, Hahnen E, Haiman C, Håkansson N, Hamann U, Hansen T, Harris H, Hartman M, Heitz F, Hildebrandt M, Høgdall E, Høgdall C, Hopper J, Huang R, Huff C, Hulick P, Huntsman D, Imyanitov E, Isaacs C, Jakubowska A, James P, Janavicius R, Jensen A, Johannsson O, John E, Jones M, Kang D, Karlan B, Karnezis A, Kelemen L, Khusnutdinova E, Kiemeney L, Kim B, Kjaer S, Komenaka I, Kupryjanczyk J, Kurian A, Kwong A, Lambrechts D, Larson M, Lazaro C, Le N, Leslie G, Lester J, Lesueur F, Levine D, Li L, Li J, Loud J, Lu K, Lubiński J, Mai P, Manoukian S, Marks J, Matsuno R, Matsuo K, May T, McGuffog L, McLaughlin J, McNeish I, Mebirouk N, Menon U, Miller A, Milne R, Minlikeeva A, Modugno F, Montagna M, Moysich K, Munro E, Nathanson K, Neuhausen S, Nevanlinna H, Yie J, Nielsen H, Nielsen F, Nikitina-Zake L, Odunsi K, Offit K, Olah E, Olbrecht S, Olopade O, Olson S, Olsson H, Osorio A, Papi L, Park S, Parsons M, Pathak H, Pedersen I, Peixoto A, Pejovic T, Perez-Segura P, Permuth J, Peshkin B, Peterlongo P, Piskorz A, Prokofyeva D, Radice P, Rantala J, Riggan M, Risch H, Rodriguez-Antona C, Ross E, Rossing M, Runnebaum I, Sandler D, Santamariña M, Soucy P, Schmutzler R, Setiawan V, Shan K, Sieh W, Simard J, Singer C, Sokolenko A, Song H, Southey M, Steed H, Stoppa-Lyonnet D, Sutphen R, Swerdlow A, Tan Y, Teixeira M, Teo S, Terry K, Terry M, Thomassen M, Thompson P, Thomsen L, Thull D, Tischkowitz M, Titus L, Toland A, Torres D, Trabert B, Travis R, Tung N, Tworoger S, Valen E, van Altena A, van der Hout A, Van Nieuwenhuysen E, van Rensburg E, Vega A, Edwards D, Vierkant R, Wang F, Wappenschmidt B, Webb P, Weinberg C, Weitzel J, Wentzensen N, White E, Whittemore A, Winham S, Wolk A, Woo Y, Wu A, Yan L, Yannoukakos D, Zavaglia K, Zheng W, Ziogas A, Zorn K, Kleibl Z, Easton D, Lawrenson K, DeFazio A, Sellers T, Ramus S, Pearce C, Monteiro A, Cunningham J, Goode E, Schildkraut J, Berchuck A, Chenevix-Trench G, Gayther S, Antoniou A, Pharoah P. Polygenic risk modeling for prediction of epithelial ovarian cancer risk. European Journal Of Human Genetics 2022, 30: 349-362. PMID: 35027648, PMCID: PMC8904525, DOI: 10.1038/s41431-021-00987-7.Peer-Reviewed Original Research
2020
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
Fachal L, Aschard H, Beesley J, Barnes DR, Allen J, Kar S, Pooley KA, Dennis J, Michailidou K, Turman C, Soucy P, Lemaçon A, Lush M, Tyrer JP, Ghoussaini M, Moradi Marjaneh M, Jiang X, Agata S, Aittomäki K, Alonso MR, Andrulis IL, Anton-Culver H, Antonenkova NN, Arason A, Arndt V, Aronson KJ, Arun BK, Auber B, Auer PL, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Beeghly-Fadiel A, Benitez J, Bermisheva M, Białkowska K, Blanco AM, Blomqvist C, Blot W, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Borg A, Bosse K, Brauch H, Brenner H, Briceno I, Brock IW, Brooks-Wilson A, Brüning T, Burwinkel B, Buys SS, Cai Q, Caldés T, Caligo MA, Camp NJ, Campbell I, Canzian F, Carroll JS, Carter BD, Castelao JE, Chiquette J, Christiansen H, Chung WK, Claes KBM, Clarke CL, Collée J, Cornelissen S, Couch F, Cox A, Cross S, Cybulski C, Czene K, Daly M, de la Hoya M, Devilee P, Diez O, Ding Y, Dite G, Domchek S, Dörk T, dos-Santos-Silva I, Droit A, Dubois S, Dumont M, Duran M, Durcan L, Dwek M, Eccles D, Engel C, Eriksson M, Evans D, Fasching P, Fletcher O, Floris G, Flyger H, Foretova L, Foulkes W, Friedman E, Fritschi L, Frost D, Gabrielson M, Gago-Dominguez M, Gambino G, Ganz P, Gapstur S, Garber J, García-Sáenz J, Gaudet M, Georgoulias V, Giles G, Glendon G, Godwin A, Goldberg M, Goldgar D, González-Neira A, Tibiletti M, Greene M, Grip M, Gronwald J, Grundy A, Guénel P, Hahnen E, Haiman C, Håkansson N, Hall P, Hamann U, Harrington P, Hartikainen J, Hartman M, He W, Healey C, Heemskerk-Gerritsen B, Heyworth J, Hillemanns P, Hogervorst F, Hollestelle A, Hooning M, Hopper J, Howell A, Huang G, Hulick P, Imyanitov E, Isaacs C, Iwasaki M, Jager A, Jakimovska M, Jakubowska A, James P, Janavicius R, Jankowitz R, John E, Johnson N, Jones M, Jukkola-Vuorinen A, Jung A, Kaaks R, Kang D, Kapoor P, Karlan B, Keeman R, Kerin M, Khusnutdinova E, Kiiski J, Kirk J, Kitahara C, Ko Y, Konstantopoulou I, Kosma V, Koutros S, Kubelka-Sabit K, Kwong A, Kyriacou K, Laitman Y, Lambrechts D, Lee E, Leslie G, Lester J, Lesueur F, Lindblom A, Lo W, Long J, Lophatananon A, Loud J, Lubiński J, MacInnis R, Maishman T, Makalic E, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez M, Matsuo K, Maurer T, Mavroudis D, Mayes R, McGuffog L, McLean C, Mebirouk N, Meindl A, Miller A, Miller N, Montagna M, Moreno F, Muir K, Mulligan A, Muñoz-Garzon V, Muranen T, Narod S, Nassir R, Nathanson K, Neuhausen S, Nevanlinna H, Neven P, Nielsen F, Nikitina-Zake L, Norman A, Offit K, Olah E, Olopade O, Olsson H, Orr N, Osorio A, Pankratz V, Papp J, Park S, Park-Simon T, Parsons M, Paul J, Pedersen I, Peissel B, Peshkin B, Peterlongo P, Peto J, Plaseska-Karanfilska D, Prajzendanc K, Prentice R, Presneau N, Prokofyeva D, Pujana M, Pylkäs K, Radice P, Ramus S, Rantala J, Rau-Murthy R, Rennert G, Risch H, Robson M, Romero A, Rossing M, Saloustros E, Sánchez-Herrero E, Sandler D, Santamariña M, Saunders C, Sawyer E, Scheuner M, Schmidt D, Schmutzler R, Schneeweiss A, Schoemaker M, Schöttker B, Schürmann P, Scott C, Scott R, Senter L, Seynaeve C, Shah M, Sharma P, Shen C, Shu X, Singer C, Slavin T, Smichkoska S, Southey M, Spinelli J, Spurdle A, Stone J, Stoppa-Lyonnet D, Sutter C, Swerdlow A, Tamimi R, Tan Y, Tapper W, Taylor J, Teixeira M, Tengström M, Teo S, Terry M, Teulé A, Thomassen M, Thull D, Tischkowitz M, Toland A, Tollenaar R, Tomlinson I, Torres D, Torres-Mejía G, Troester M, Truong T, Tung N, Tzardi M, Ulmer H, Vachon C, van Asperen C, van der Kolk L, van Rensburg E, Vega A, Viel A, Vijai J, Vogel M, Wang Q, Wappenschmidt B, Weinberg C, Weitzel J, Wendt C, Wildiers H, Winqvist R, Wolk A, Wu A, Yannoukakos D, Zhang Y, Zheng W, Hunter D, Pharoah P, Chang-Claude J, García-Closas M, Schmidt M, Milne R, Kristensen V, French J, Edwards S, Antoniou A, Chenevix-Trench G, Simard J, Easton D, Kraft P, Dunning A. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. Nature Genetics 2020, 52: 56-73. PMID: 31911677, PMCID: PMC6974400, DOI: 10.1038/s41588-019-0537-1.Peer-Reviewed Original ResearchConceptsCausal variantsTranscription factorsTarget genesActive gene regulatory regionsHigh-confidence target genesGenomic feature annotationsGenome-wide association studiesBreast cancer risk variantsGene regulatory regionsCredible causal variantsGene ontology pathwaysChromatin interactionsFunctional annotationGenomic regionsOntology pathwaysRegulatory regionsGenomic featuresCancer driversGene expressionAssociation studiesAssociation analysisGenesLinkage disequilibriumRisk variantsHigh posterior probability
2017
Robust Tests for Additive Gene-Environment Interaction in Case-Control Studies Using Gene-Environment Independence
Liu G, Mukherjee B, Lee S, Lee AW, Wu AH, Bandera EV, Jensen A, Rossing MA, Moysich KB, Chang-Claude J, Doherty JA, Gentry-Maharaj A, Kiemeney L, Gayther SA, Modugno F, Massuger L, Goode EL, Fridley BL, Terry KL, Cramer DW, Ramus SJ, Anton-Culver H, Ziogas A, Tyrer JP, Schildkraut JM, Kjaer SK, Webb PM, Ness RB, Menon U, Berchuck A, Pharoah PD, Risch H, Pearce CL, Consortium F. Robust Tests for Additive Gene-Environment Interaction in Case-Control Studies Using Gene-Environment Independence. American Journal Of Epidemiology 2017, 187: 366-377. PMID: 28633381, PMCID: PMC5860584, DOI: 10.1093/aje/kwx243.Peer-Reviewed Original Research